Sleep Endoscopy Patterns in Six Adults With Trisomy 21 and Obstructive Sleep Apnea

Area of Science:

• Sleep Medicine
• Genetics
• Otolaryngology

Background:

• Obstructive sleep apnea (OSA) is highly prevalent in individuals with Trisomy 21 (T21).
• Understanding the specific upper airway collapse patterns in T21 patients with OSA is crucial for effective management.
• Previous studies have not extensively detailed the pharyngeal anatomy contributing to OSA in adults with T21.

Purpose of the Study:

• To investigate the patterns of upper airway collapse during sleep in adult patients with Trisomy 21 and OSA.
• To compare these collapse patterns with those typically observed in adults without T21.
• To explore potential anatomical differences contributing to the high prevalence of OSA in the T21 population.

Main Methods:

• A case series involving six adult patients diagnosed with both OSA and T21.
• Drug-induced sleep endoscopy (DISE) was performed on all participants.
• Airway collapse patterns were documented and compared to established data from non-T21 OSA patients.

Main Results:

• Four out of six (66.7%) T21 patients exhibited predominantly hypopharyngeal airway collapse.
• This pattern of hypopharyngeal collapse is significantly more common in T21 patients compared to the general OSA population.
• Other airway segments showed variable degrees of collapse, but hypopharyngeal involvement was the most consistent finding.

Conclusions:

• Hypopharyngeal collapse is a major contributing factor to OSA in adults with Trisomy 21.
• Anatomical variations in the hypopharynx may underlie the increased prevalence of OSA in individuals with T21.
• These findings suggest that targeted hypopharyngeal interventions may be beneficial for managing OSA in this patient group.